ABSTRACT
<p><b>OBJECTIVE</b>To investigate the effects of YOD1 overexpression on the proliferation and migration of human oral keratinocytes (HOKs), and to clarify whether the mechanisms involve transforming growth factor-β (TGF-β) signaling.</p><p><b>METHODS</b>HOKs were transfected with the plasmid pEGFP-N3-YOD1 containing YOD1. The mRNA levels of YOD1 and TGF-β were determined by qPCR. The protein expressions of YOD1, TGF-β, Smad2/3, Smad4, and phospho-Smad2/3 were determined by western blotting. Cell proliferation and migration were evaluated by Cell Counting Kit-8 assay and wound healing assay, respectively.</p><p><b>RESULTS</b>The mRNA and protein levels of YOD1 were higher in HOKs transfected with YOD1. YOD1 overexpression significantly enhanced the migration of HOKs. The mRNA and protein levels of TGF-β3 were increased by YOD1 overexpression. HOKs transfected with YOD1 exhibited increased phospho-Smad2/3 levels.</p><p><b>CONCLUSION</b>YOD1 overexpression enhances cell migration by promoting TGF-β3 signaling which may play an important role in lip and palate formation. YOD1 mutation may contribute to aberrant TGF-β3 signaling associated with decreased cell migration resulting in NSCLP.</p>
Subject(s)
Humans , Cell Movement , Physiology , Cell Proliferation , Cells, Cultured , Endopeptidases , Genetics , Metabolism , Keratinocytes , Physiology , Signal Transduction , Physiology , Smad Proteins , Genetics , Metabolism , Thiolester Hydrolases , Genetics , Metabolism , Transforming Growth Factor beta3 , Genetics , MetabolismABSTRACT
El síndrome de Gorlin-Goltz corresponde a un trastorno de herencia autosómica dominante. Uno de los criterios menores de este síndrome es la fisura labiopalatina. Si bien esta corresponde a la anomalía congénita maxilofacial más prevalente, un porcentaje variable está asociado a síndromes. Presentar un caso de un paciente con síndrome de Gorlin-Goltz y fisura labiopalatina bilateral asociada constituye el propósito de esta presentación. Se trata de un paciente de 12 años de edad, con diagnóstico de síndrome de Gorlin-Goltz remitido por genetista. Clínicamente presenta anomalías cutáneas, óseas, dentarias, neurológicas, tumores, hoyuelos palmoplantares, prognatismo mandibular y fisura labiopalatina bilateral operada. Es importante reconocer las características asociadas no solo al área craneofacial, sino también a otras partes del cuerpo. Se requiere de la atención de un equipo multidisciplinario en el que el odontólogo también debe participar. La mayoría de las publicaciones se enfocan solo en el manejo quirúrgico de los quistes y no en el de otras secuelas asociadas, como lo es la fisura labiopalatina(AU)
Gorlin-Goltz syndrome is an autosomal dominant inheritance disorder. Cleft lip and palate is one of the minor criteria for this syndrome. Cleft lip and palate is the most prevalent congenital maxillofacial anomaly, and a varying percentage is associated with syndromes. Present the case of a patient with Gorlin-Goltz syndrome and associated bilateral cleft lip and palate. A 12-year-old male patient was referred by the geneticist with a diagnosis of Gorlin-Goltz syndrome. Clinical examination revealed skin, bone, dental and neurological anomalies, as well as tumors, palmoplantar pits, mandibular prognathism and operated bilateral cleft lip and palate. It is important to examine not only features associated with the craniofacial region, but also with other parts of the body. An interdisciplinary team is required of which the odontologist should be a member. Most publications only refer to the surgical management of cysts and not to associated sequels, such as cleft lip and palate(AU)
Subject(s)
Humans , Male , Child , Basal Cell Nevus Syndrome/diagnosis , Cleft Palate/diagnosis , Review Literature as Topic , Pediatric Dentistry/methodsABSTRACT
Objective:To study the association between rs2235371,rs2013162,rs2235377 SNPs in interferon regulatory factor 6 (IRF6)gene and non-syndromic cleft lip with or without cleft palate(NSCL/P)in Xinjiang Uyghur population.Methods:100 Uyghur NSCL/P patients from Xinjiang were included in the case group and 60 Uyghur inpatients with upper respiratory tract infection were se-lected in the control group.Next,generation sequencing was used,DNA sequencing results were compared with the information on the genome database and genetic analysis were made.Results:There were no significant differences in the frequency distribution of both genotypes and alles when the cases were campared with the controls at the rs2235371,rs2013162 and rs2235377 loci(P >0.05). Above three loci were located in the same block,rs2235371 and rs2235377 loci presents the strong linkage disequilibrium(r2 =0.949, D'=0.974).Possible haplotypes were:CCT >CAT >TAC,and there was no significant difference between the cases and controls in haplotype distribution(P >0.05).Conclusion:Polymorphisms of rs2235371,rs2013162 and rs2235377 in IRF6 gene may be associ-ated with NSCL/P in Xinjiang Uygur people.